DiGeorge syndrome - deletion of 22. Dysmorphic facial features, Tetralogy of Fallot, recurrent infections with Candida, hypoplasia of the thymus, hypocalcemia due to dysfunctional hypoparathyroid glands.
June 23, 2013: 22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge anomaly, velo-cardio-facial syndrome, -amongst others, is a syndrome caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated 22q11.2—signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2. It has a prevalence estimated at 1:4000.